Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis

This publication has 216 references indexed in Scilit:

• Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect
  2013
• Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia
  Cell Biochemistry and Biophysics, 2013
• cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
  2012
• Genetic disorders of vitamin B₁₂metabolism: eight complementation groups – eight genes
  Expert Reviews in Molecular Medicine, 2010
• Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12
  Human Mutation, 2010
• Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type
  Human Mutation, 2010
• Hydroxocobalamin dose escalation improves metabolic control in cblC
  Journal of Inherited Metabolic Disease, 2009
• In vitamin B ₁₂ deficiency, higher serum folate is associated with increased total homocysteine and methylmalonic acid concentrations
  Proceedings of the National Academy of Sciences, 2007
• Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
  BMC Medical Genetics, 2007
• Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN
  European Journal of Pediatrics, 2007